A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268751



Internal ID22276297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:39952439..39976398hg38UCSC Ensembl
Outerchr21:41324366..41348325hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg381342
hg191342
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246456
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268751
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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